Skeletal dysplasia
Gene: ERF
Craniosynostosis syndrome gp of SD. Chitayat - bilateral accessory phalanx resulting in shortened index fingers with ulnar devaiation: Y89C variant only . Several cases reported for both pehnotypes. Specific variant only for Chitayat syndrome Y89C. Do you report variants in this gene as part of your current diagnostic practice? yes - for CSS and Chitayat syndrome; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Craniosynostosis 4 600775; Chitayat syndrome - 617180
Publications
Mode of pathogenicity
Other - please provide details in the comments
Variants in this GENE are reported as part of current diagnostic practice
This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: ERF; Initial rating suggestion: green - on CSS panel but also green here for Chitayat (specific variant only)Created: 6 Mar 2019, 11:36 a.m.
Comment when marking as ready: Associated with phenotype in G2P. Numerous variants reported in this phenotype.Created: 7 Jul 2016, 8:19 a.m.
Comment on list classification: Tier 2 gene for skeletal dysplasia (Ana Beleza)Created: 7 Jul 2016, 8:16 a.m.
Tier 2Created: 17 Jun 2016, 8:03 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Craniosynostosis 4 600775
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes Chitayat syndrome - 617180; Craniosynostosis 4 600775 for gene: ERF
Source NHS GMS was added to ERF. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted to version 1 9th August 2016
This gene has been classified as Green List (High Evidence).
Phenotypes for ERF were set to Craniosynostosis 4 600775
Publications for ERF were set to 23354439; 26097063
This gene has been classified as Green List (High Evidence).
ERF was added to Unexplained skeletal dysplasiapanel. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,UKGTN
ERF was added to Unexplained skeletal dysplasiapanel. Sources: Expert list
ERF was created by anabeleza